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Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations
PURPOSE: To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus. OBSERVATIONS: This is a retrospective observational case series in a multi-center setting with genetic testing. Three female pa...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956696/ https://www.ncbi.nlm.nih.gov/pubmed/29780932 http://dx.doi.org/10.1016/j.ajoc.2018.02.021 |